On February 1, 2020, an additional test was added to the newborn screening, performed 2-3 days after birth. Severe combined immunodeficiency (SCID) is thus the 18th disease for which newborns are screened in Denmark.
Severe combined immunodeficiency, SCID, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in different clinical presentations. SCID patients are usually affected by life-threatening severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive. Without early treatment, such as bone marrow transplantation, enzyme substitution, or gene therapy, children with SCID will die within the first year of life. The earlier the child is treated, the better the treatment results.
By screening all newborns for SCID, the disease can be detected earlier. It improves treatment options and thus ensures better survival, less morbidity, and fewer sequelae among screened children. It is expected that by screening for SCID annually, approximately one newborn with SCID and 7-8 newborns with other severe immune defects will be diagnosed.
It is still the responsibility of the maternity ward to provide all mothers/parents with information about the newborn screening, and it will henceforth also include information on screening for SCID.
The full details in Danish can be found here.
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